title: Detection of a novel βδ-globin fusion gene, anti-lepore Hb CHORI (β(through IVS-I-57)/δ(from IVS-I-101)), by multiplex ligation-dependent probe amplification.
abstract: Anti-Lepore hemoglobins (Hbs) are rare βδ fusion variants that arise from non homologous crossover during meiosis. Using multiplex ligation-dependent probe amplification (MLPA), we identified a novel anti-Lepore Hb in an individual with an ambiguous Hb variant detected on routine screening by electrophoresis and high performance liquid chromatography (HPLC). The results of MLPA revealed duplication of β and δ gene segments. Resolution of the rearrangement by DNA sequencing confirmed a novel anti-Lepore Hb, molecularly distinct from Hb P-Nilotic, which we have named anti-Lepore Hb CHORI (Children's Hospital Oakland Research Institute) (β(through IVS-I-57)/δ(from IVS-I-101)).
authors.affiliation: Hemoglobinopathy Reference Laboratory, Children's Hospital & Research Center Oakland, Oakland , California , USA.
authors.forename: Jialing
authors.initials: J
authors.lastname: Cui
authors.forename: Mahin
authors.initials: M
authors.lastname: Azimi
authors.forename: Carolyn C
authors.initials: CC
authors.lastname: Hoppe
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D050939:Gene Fusion; D006453:Hemoglobinopathies / Q000175:diagnosis / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D007525:Isoelectric Focusing; D008969:Molecular Sequence Data; D060885:Multiplex Polymerase Chain Reaction; D016415:Sequence Alignment; D055544:beta-Globins / Q000737:chemistry / Q000235:genetics*; D055546:delta-Globins / Q000737:chemistry / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; D055544:beta-Globins; D055546:delta-Globins